- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 7/12. (PMID:21820100)
- Talipes (HP:0001883, a Human Phenotype Ontology term): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. Frequency: 1/12. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:21820100)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/12. (PMID:21820100)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 10/12. (PMID:21820100)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/12. (PMID:21820100)
- Distal muscle weakness (HP:0002460, a Human Phenotype Ontology term): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 12/12. (PMID:21820100)
- Limb muscle weakness (HP:0003690, a Human Phenotype Ontology term): Reduced strength and weakness of the muscles of the arms and legs. Evidence: PCS. (PMID:21820100)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 8/13. (PMID:21820100)
- Difficulty running (HP:0009046, a Human Phenotype Ontology term): Reduced ability to run. Evidence: PCS. (PMID:21820100)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. (PMID:21820100)
- Distal sensory impairment (HP:0002936, a Human Phenotype Ontology term): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. Frequency: 6/12. (PMID:21820100)
- Frequent falls (HP:0002359, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/12. (PMID:21820100)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:21820100)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:21820100)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease axonal type 2O (OMIM:614228, an entry in Online Mendelian Inheritance in Man).